Variant report

Variant	rs9643179
Chromosome Location	chr8:124188971-124188972
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10096018	0.95[ASN][1000 genomes]
rs11780863	0.86[ASN][1000 genomes]
rs1563015	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1563016	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1563017	0.93[ASN][1000 genomes]
rs1670173	0.93[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs1670174	0.83[ASN][1000 genomes]
rs1670178	0.93[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs1670182	0.82[ASN][1000 genomes]
rs1713738	0.93[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs17322971	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17323019	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17375962	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376270	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376305	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385072	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28616192	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3107193	0.93[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs3107194	0.93[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs3739291	0.93[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4300008	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55633424	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55720148	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56069069	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521817	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521818	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521819	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62521820	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521821	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521822	0.95[ASN][1000 genomes]
rs62521823	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62521842	0.84[EUR][1000 genomes]
rs62521844	0.84[EUR][1000 genomes]
rs6987091	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6987128	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6987216	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001536	0.85[ASN][1000 genomes]
rs7008277	0.94[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011195	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011341	1.00[CEU][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822076	0.93[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7831175	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896681	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124186800-124189600	Weak transcription	Esophagus	oesophagus
3	chr8:124186800-124194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124186800-124194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124187000-124193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:124187200-124190000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:124187400-124189800	Weak transcription	HMEC	breast
8	chr8:124187400-124190000	Weak transcription	NHEK	skin
9	chr8:124188000-124189000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:124188000-124189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:124188400-124190400	Weak transcription	Hela-S3	cervix
12	chr8:124188600-124189600	Weak transcription	K562	blood

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